plays a direct role in cones and is needed for a proper light response from cone photoreceptor cells

needed for the proper functioning and survival of cone photoreceptors

may have a role in directly regulating the UBD conjugation machinery

CELLULAR PROCESS

protein, post translation, folding

PHYSIOLOGICAL PROCESS

text

nuclear-cytoplasmic transport

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein

NEDD8 Ultimate Buster 1, NUB1

farnesylated proteins

interacting with HSP90 and HSP70 (specialized role of AIPL1 in photoreceptors may be modulated by the molecular chaperones Hsp90 and Hsp70, and this association may be important in the pathogenesis of LCA)

interacting with PDE6A and is needed for the proper assembly of functional rod PDE6 subunits

AIPL1 interact with NUB1, which facilitates the proteasomal degradation of proteins modified with the ubiquitin-like protein UBD

NEUROD1 may act through AIPL1 and other genes to maintain photoreceptor homeostasis

. strong and stable rescue retinal degeneration in Aipl1 null and Aipl1 hypomorphic (Aipl1hypo) mutant mice using AAV8 vector containing the human RK promoter, which is only active in both types of photoreceptors

mouse with rods expressing lowered amounts of AIPL1 delayed the photoresponse, decreased its amplification constant, slowed a rate-limiting step in its recovery, and limited the light-induced decrease in Ca2

restoration of cellular function and preservation of photoreceptor cells and retinal function in Aipl1 h/h mice following gene replacement therapy using an AAV2/2 vector and in the light accelerated Aipl1 h/h model and Aipl1-/- mice using an AAV2/8 vector